Short Description

NGS genetic DNA test detecets for variant and mutation detection in AK2 gene for Reticular dysgenesis

PreTest Information

Clinical History of Patient who is going for AK2 Gene Reticular dysgenesis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AK2 Gene Reticular dysgenesis NGS Genetic DNA Test gene AK2

Detail Description

Understanding AK2 Gene and Reticular Dysgenesis: Symptoms, Diagnosis and NGS Genetic DNA Test Cost in India

AK2 gene is responsible for encoding an enzyme called adenylate kinase 2. This enzyme plays a crucial role in the production of energy in cells. Mutations in the AK2 gene can lead to a condition called reticular dysgenesis, which is a rare genetic disorder that affects the immune system.

Reticular dysgenesis is characterized by the absence or severe reduction of lymphocytes, which are white blood cells that play a key role in fighting infections. This condition is usually diagnosed in newborns or young infants and can be life-threatening if left untreated.

Symptoms of Reticular Dysgenesis

The symptoms of reticular dysgenesis can vary depending on the severity of the condition. Some common symptoms include:

• Recurrent infections
• Fever
• Diarrhea
• Failure to thrive
• Hearing loss

Since reticular dysgenesis affects the immune system, individuals with this condition are prone to recurrent infections that can be severe and difficult to treat. They may also experience hearing loss due to a lack of white blood cells in the inner ear.

Diagnosis of Reticular Dysgenesis

Diagnosis of reticular dysgenesis involves a combination of clinical evaluation, laboratory tests, and genetic testing. Blood tests can be used to measure the number and function of white blood cells, while genetic testing can confirm the presence of mutations in the AK2 gene.

It is important to diagnose reticular dysgenesis early, as prompt treatment can improve the prognosis for affected individuals.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing for reticular dysgenesis in India can vary depending on the laboratory and the specific test being performed. On average, the cost of this test can range from INR 15,000 to INR 25,000.

NGS genetic DNA testing is a powerful tool for diagnosing genetic disorders such as reticular dysgenesis. This technology can analyze large amounts of DNA quickly and accurately, making it an essential tool for genetic testing and research.

Conclusion

Reticular dysgenesis is a rare genetic disorder that can have serious consequences if left untreated. Early diagnosis and prompt treatment are essential for improving the prognosis for affected individuals. NGS genetic DNA testing can play a crucial role in the diagnosis of this condition and can help healthcare providers develop effective treatment plans.

If you suspect that you or a loved one may have reticular dysgenesis, it is important to speak with a healthcare provider as soon as possible to discuss testing and treatment options.